Canonical Allele Identifier: PA2826216867
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2751116
ClinVar RCV Id: RCV003582852
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Ala394Ser
CA404086586
NM_001195803.2:c.1180G>T